Publications by authors named "Guang Qing Sun"
Article Synopsis
- * In experiments on mice, researchers saw that removing the WT1 gene led to the death of germ cells, which are needed for sperm production, leaving only supportive cells behind, like what happens in human azoospermia.
- * The study showed that WT1 helps keep the cells in the right shape and function, and its absence affects a special barrier and certain genes that are important for making sperm.
Background: Marie Unna hereditary hypotrichosis (MUHH) is an autosomal dominant disorder characterised by coarse, wiry, twisted hair developed in early childhood and subsequent progressive hair loss. MUHH is a genetically heterogeneous disorder. No gene in 1p21.
View Article and Find Full Text PDFDisseminated superficial actinic porokeratosis (DSAP) is an autosomal dominantly inherited epidermal keratinization disorder whose etiology remains unclear. We performed exome sequencing in one unaffected and two affected individuals from a DSAP family. The mevalonate kinase gene (MVK) emerged as the only candidate gene located in previously defined linkage regions after filtering against existing SNP databases, eight HapMap exomes and 1000 Genomes Project data and taking into consideration the functional implications of the mutations.
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